Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.C421F
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SLC12A3

NM_001126108.2:p.C421F

Associated Papers

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Spectrum of variants in a large Chinese Gitelman syndrome cohort.

Mou L et al.

Clinical Genetics, 2023

Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.

Wan ER et al.

Kidney International Reports, 2023

36938092 (PubMed )
Supplement: mmc1.pdf

Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5.

Zhang X et al.

Clinical Genetics, 2022

Genetic and Biological Effects of SLC12A3, a Sodium-Chloride Cotransporter, in Gitelman Syndrome and Diabetic Kidney Disease.

Li N et al.

Frontiers in Genetics, 2022

Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome.

Zeng Y et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019

Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort.

Ma J et al.

American Journal of Nephrology, 2016

Genotype/Phenotype Analysis in 67 Chinese Patients with Gitelman's Syndrome.

Liu T et al.

American Journal of Nephrology, 2016

Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome.

Qin L et al.

Nephrology (carlton, Vic.), 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."